Product Code: 01-NMD-27
From £467.00
Deadline to order: 30/11/2026
Dystrophin gene and panel testing for Rare Neuromuscular Disorders (NMD) (germline DNA). This EQA has options for targeted DMD / BMD testing and/or NMD panel testing.
Variants in the Dystrophin gene and panel testing for rare neuromuscular disorders. This EQA has options for:
Gene panel testing of genes associated with rare neuromuscular disorders. The scope of this EQA is broadly in line with the genes designated high evidence (green) on the Genomics England NMD panel list.
CNV, MLPA, NGS, Panel testing, PCR based, Whole exome sequencing, Whole genome sequencing
Dutch, English, French, German, Italian, Spanish
DNA (in TE Buffer)
Yes
Jan-27
January - March 2027 (for exact dates, please see scheme instructions)
August 2027
You can complete purchase on our secure partner site.
The scheme is designed to assess the entire diagnostic pipeline of a laboratory, including sample receipt and processing, analytical processing (genotyping), and reporting (biological and clinical interpretation of the test result) in the context of a clinical referral, as well as reporting clarity, content and clerical accuracy.
Three mock clinical cases, two with matching samples and one virtual case will be provided.
Approximately 2µg DNA per sample is provided. Complete information will be available in scheme instructions.
Participants will receive an individual report including educational advice and a scheme report which includes additional information from the cohort of participants including geographical spread, methodologies employed, common errors, learning points and scheme statistics allowing participants to benchmark their results.
Each laboratory will also receive a single certificate listing all EQAs participated in with performance result for each year.
Participants are expected to test samples according to their routine strategy, to return a clinical report and to complete the data collection form.
Panel testing can be performed using any appropriate panel for genes associated with muscular dystrophy. To account for differing panel compositions, variants outside the stated scope of an individual laboratory’s panel will be excluded from their assessment. Only variants that have been validated in the test samples will be assessed.
No restrictions on number of participants. Open to laboratories from ALL countries (note: some restrictions may apply due to sanctions, delivery network exceptions, restrictions on importation etc).
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